Plasma amino acid and urine organic acid profiles of Filipino patients with maple syrup urine disease (MSUD) and correlation with their neurologic features-Reference-Cited by-同舟云学术

Plasma amino acid and urine organic acid profiles of Filipino patients with maple syrup urine disease (MSUD) and correlation with their neurologic features

Published:2016-12 Issue: Volume:9 Page:46-53
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Chiong Mary Anne D.,Tan Marilyn A.,Cordero Cynthia P.,Fodra Esphie Grace D.,Manliguis Judy S.,Lopez Cristine P.,Dalmacio Leslie Michelle M.

Funder

Newborn Screening Reference Center of the Philippines

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference25 articles.

1. Branched-chain ketoacyl dehydrogenase deficiency: maple syrup urine disease;Strauss;Curr. Treat. Options Neurol.,2003

2. Maple syrup urine disease (branched-chain ketoaciduria);Chuang,2001

3. Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms;Puckett;Mol. Genet. Metab.,2010

4. Reduction of large neutral amino acid concentrations in plasma and CSF of patients with maple syrup urine disease during crises;Wajner;J. Inherit. Metab. Dis.,2000

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1. Leucine tolerance in children with MSUD is not correlated with plasma leucine levels at diagnosis;Journal of Pediatric Endocrinology and Metabolism;2022-12-19

2. Alternative sources of valine and isoleucine for prompt reduction of plasma leucine in maple syrup urine disease patients: A case series;JIMD Reports;2022-09-05

3. Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease;Molecular Genetics & Genomic Medicine;2020-06-09

4. Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism;Scientific Reports;2019-06-24

5. Amino and organic acid analysis: Essential tools in the diagnosis of inborn errors of metabolism;Advances in Clinical Chemistry;2019